ClinVar Miner

Submissions for variant NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) (rs754279998)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201670 SCV000256447 pathogenic Joubert syndrome 2015-02-23 criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414929 SCV000492770 pathogenic Polydactyly; Global developmental delay; Rotary nystagmus; Limb undergrowth; Chronic kidney disease 2015-10-23 criteria provided, single submitter clinical testing
Counsyl RCV000665372 SCV000789485 likely pathogenic Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 2017-02-03 criteria provided, single submitter clinical testing
Invitae RCV000691391 SCV000819167 pathogenic Joubert syndrome; Meckel-Gruber syndrome 2018-12-28 criteria provided, single submitter clinical testing This variant, c.1115_1117delCCT, results in the deletion of 1 amino acid(s) of the MKS1 protein (p.Ser372del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754279998, ExAC 0.009%). This variant has been reported as homozygous and/or in combination with another MKS1 variant in several individuals affected with Joubert syndrome (PMID: 24886560, 26092869, 27570071). The variant is also known as c.1085_1088delCCT (p.S362del) in the literature. ClinVar contains an entry for this variant (Variation ID: 217677). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000241545 SCV000301466 pathogenic Joubert syndrome 28 2016-09-23 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.